Annotation Detail
Information
- Associated Genes
- CEP164
- Associated Variants
-
CEP164 p.Gln1119Arg (p.Q1119R)
(
ENST00000278935.8 )
CEP164 p.Gln1119Arg (p.Q1119R) ( ENST00000278935.8 ) - Associated Disease
- nephronophthisis 15
- Source Database
- ClinVar
- Description
- NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) AND Nephronophthisis 15
- ClinVar Allele ID
- 254006
- ClinVar RefSeq Alternation Syntax
- NM_001271933.2:c.3365A>G
- ClinVar RefSeq Alternation Syntax
- NM_014956.5:c.3356A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001511276
- ClinVar Disease
- Nephronophthisis 15
- Observed Origin Sample
- germline
Drugs